Torres V E, Erickson S B, Smith L H, Wilson D M, Hattery R R, Segura J W
Department of Diagnostic Radiology, Mayo Clinic, Rochester, MN 55905.
Am J Kidney Dis. 1988 Apr;11(4):318-25. doi: 10.1016/s0272-6386(88)80137-9.
Despite the frequency and morbidity of nephrolithiasis in autosomal dominant polycystic kidney disease (ADPKD), this association has not been subject to a detailed study. One hundred fifty-one of 751 ADPKD patients seen at the Mayo Clinic between 1976 and 1986 had nephrolithiasis. Seventy-four had passed calculi or had stones surgically removed. Stone analysis was available in 30 patients: uric acid, calcium oxalate, calcium phosphate, and struvite were present in 56.6%, 46.6%, 20%, and 10%, respectively. Calculi were observed in 71 of 79 patients with excretory urograms available for review. Faintly opaque and bull's eye stones, probably containing uric acid, were present in 12.7% and 14.1% of these patients, respectively. Precaliceal tubular ectasia was observed in 15.5%. Ninety-seven patients had preserved renal function (serum creatinine less than 1.5 mg/dL) at the initial evaluation. Six were excluded because they had other known causes of stone disease. The most common metabolic abnormality in the remaining 91 patients was hypocitric aciduria (ten of 15 patients with measurements). The urine pH in the first voided morning specimens (5.66 +/- 0.05) was significantly lower than that of an unselected control population (5.92 +/- 0.03, P less than 0.001). Hyperuricosuria, hyperoxaluria, and hypercalciuria were observed in six of 32 (18.8%), six of 31 (19.4%), and three of 39 (9.7%) patients with preserved renal function. The composition of the stones, the frequency of hypocitric aciduria, and the low urine pH (possibly related to the defect in excretion of ammonia described in ADPKD), suggest that metabolic, along with mechanical, factors are responsible for the frequent occurrence of nephrolithiasis in this disease.
尽管常染色体显性多囊肾病（ADPKD）中肾结石的发病率较高且具有临床意义，但这种关联尚未得到详细研究。1976年至1986年间在梅奥诊所就诊的751例ADPKD患者中，有151例患有肾结石。74例患者的结石已排出或通过手术取出。30例患者进行了结石分析：尿酸、草酸钙、磷酸钙和鸟粪石分别占56.6%、46.6%、20%和10%。在79例有排泄性尿路造影可供复查的患者中，有71例观察到结石。这些患者中分别有12.7%和14.1%存在可能含有尿酸的轻度不透光结石和靶心样结石。观察到15.5%的患者有肾盏前肾小管扩张。97例患者在初次评估时肾功能正常（血清肌酐低于1.5mg/dL）。6例因有其他已知的结石病病因被排除。其余91例患者中最常见的代谢异常是低枸橼酸尿症（15例有检测结果的患者中有10例）。晨尿首次排尿标本的尿液pH值（5.66±0.05）显著低于未选择的对照人群（5.92±0.03，P＜0.001）。在32例肾功能正常的患者中，有6例（18.8%）出现高尿酸尿症，31例中有6例（19.4%）出现高草酸尿症，39例中有3例（9.7%）出现高钙尿症。结石的成分、低枸橼酸尿症的发生率以及低尿液pH值（可能与ADPKD中描述的氨排泄缺陷有关）表明，代谢因素以及机械因素共同导致了该疾病中肾结石的频繁发生。
